A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469750



Internal ID15187779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248538645..248714122hg38UCSC Ensembl
Innerchr1:248701946..248877423hg19UCSC Ensembl
Innerchr1:246768569..246944046hg18UCSC Ensembl
Innerchr1:245637125..245812608hg16UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38175478
hg19175478
hg18175478
hg16175484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673288, nssv1676029
Samples
Known GenesOR14I1, OR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469750
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer